Osteogenesis imperfecta: Causes, Symptoms and Treatment

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Osteogenesis imperfecta syndrome or «fragile children» refers to abnormal fragility of the bones that occurs as a congenital or during childhood or adolescence (rarely adult) age. The disease is of four main types, depending on the time of occurrence and severity of damage. Congenital osteogenesis imperfecta gives fractures in utero or during childbirth. Children are born with multiple fractures. In the other three types of fractures of the disease occur in the first years of life or during adolescence at low loads.

Osteogenesis imperfecta: Causes

Supposed Causes osteogenesis imperfecta — a congenital abnormality in the structure or metabolism of collagen — a protein of connective tissue specific. This usually occurs as a result of mutations in genes encoding the protein and disturbing correct synthesis of the protein. Collagen protein necessary for building of bone and cartilage, providing the proper growth of the skeleton and its strength and elasticity. If you have problems immediately after birth refers to the dominant inheritance of the disease, usually a child will inherit the problem from one parent.

Severe forms are usually inherited in a recessive type, but if the gene is detected in both parents, or is the result of spontaneous mutations.

Osteogenesis imperfecta: Symptoms

The main symptoms of osteogenesis imperfecta are associated with lesions of bone system of the child. There is an increase in bone fragility of minor injuries, and the bones badly deformed from the usual loads. This bone soft consistency, often shorten and thicken due to compression when attempting to walk. To this end, the syndrome is characterized by the typical blue sclera eye muscles are affected, they are poorly developed and poorly developed parallel to the joints and ligaments. Frequent bleeding, there are severe scarring of the skin, and the severity of the damage depends on the disease.

Severe forms of osteogenesis imperfecta occur in the presence of multiple fractures, bone torsional axis that causes a thickening and shortening them, especially in the femur and tibia, radius and ulna, humerus. Such children die at birth or in early childhood, but if they survive, then because of the drastically shortened limbs have generated low growth and relatively large head with a small face, severely curved spine. Teeth are amazed and fall quickly, which disrupts the process of eating. Also, due to anomalies in the connective tissue revealed multiple defects and other problems. Manifested abnormal coloration of the sclera and vascular malformations with a tendency to bleeding. In milder forms there is muscle weakness and joint problems remain severe scarring from injury, can occur heart failure due to valvular problems.

Osteogenesis imperfecta: Causes, Symptoms and Treatment
Osteogenesis imperfecta: Causes, Symptoms and Treatment

Osteogenesis imperfecta: Diagnostics

Osteogenesis imperfecta can be diagnosed prenatally, although already more advanced diagnosis after birth. First of all, revealed signs of bone changes on fetal ultrasound, disturbed density and bone ossification, more clearly visible brain structures. Postnatal diagnosis is based on a triad of symptoms:

— Blue sclera, deafness and bone fragility.

If you suspect that osteogenesis imperfecta conduct a comprehensive examination — X-rays, blood and urine tests, densistometriyu bones.

Osteogenesis imperfecta: Treatment

Since this is a genetic defect, the medical treatment the disease can not be. Applicable only operative methods of treatment in combination with physical therapy. But due to abnormal bone fragility and softness of its efficiency and low. Sometimes it helps to use magnesium in therapy. It is necessary to avoid injuries, strengthen muscles, gently move. From birth, children are seen by a doctor.

Prognosis is poor, many children die at an early age, overall life expectancy is reduced dramatically.

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